Whole exome sequence analysis of Peters anomaly

Whole exome analysis identifies dominantCOL4A1mutations in patients with complex ocular phenotypes involving microphthalmia

(2014) B. Deml et al.   CLINICAL GENETICS

Syndecans as Modulators and Potential Pharmacological Targets in Cancer Progression

(2014) Despoina Barbouri et al.   Frontiers in Oncology

Genomics and anterior segment dysgenesis: a review

(2013) Yoko A Ito et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

NovelB3GALTLmutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

(2013) E. Weh et al.   CLINICAL GENETICS

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

(2013) Ivan Prokudin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Pitx3 directly regulates Foxe3 during early lens development

(2013) Nafees Ahmad et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Exome sequencing identifies mutations in the geneTTC7Ain French-Canadian cases with hereditary multiple intestinal atresia

(2013) Mark E Samuels et al.   JOURNAL OF MEDICAL GENETICS

Norrie disease: Extraocular clinical manifestations in 56 patients

(2012) Sharon E. Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result fromTBX22splicing mutations

(2012) E Pauws et al.   CLINICAL GENETICS

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

(2012) Alessia Indrieri et al.   EMBO Molecular Medicine

PITX2 and FOXC1 spectrum of mutations in ocular syndromes

(2012) Linda M Reis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Norrin: Molecular and functional properties of an angiogenic and neuroprotective growth factor

(2012) Andreas Ohlmann et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Functional Corneal Endothelium Derived from Corneal Stroma Stem Cells of Neural Crest Origin by Retinoic Acid and Wnt/β-Catenin Signaling

(2012) Shin Hatou et al.   STEM CELLS AND DEVELOPMENT

Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2

(2011) Maureen Murphy-Ryan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Biochemical Framework for SLC4A11, the Plasma Membrane Protein Defective in Corneal Dystrophies

(2011) Gonzalo L. Vilas et al.   BIOCHEMISTRY

Peters Anomaly: Review of the Literature

(2011) Ramanath Bhandari et al.   CORNEA

Genetics of anterior segment dysgenesis disorders

(2011) Linda M. Reis et al.   CURRENT OPINION IN OPHTHALMOLOGY

Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients

(2011) X Zhang et al.   EYE

Mitochondrial cytochromecsynthase: CP motifs are not necessary for heme attachment to apocytochromec

(2011) Rachel L. Moore et al.   FEBS LETTERS

A meckelin–filamin A interaction mediates ciliogenesis

(2011) Matthew Adams et al.   HUMAN MOLECULAR GENETICS

A complex regulatory network of transcription factors critical for ocular development and disease

(2011) Moulinath Acharya et al.   HUMAN MOLECULAR GENETICS

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

(2010) Jeff M. Milunsky et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome

(2010) Helena H. Santos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Additional clinical and molecular analyses ofTFAP2Ain patients with the branchio-oculo-facial syndrome

(2010) Judith Reiber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy

(2010) Erika L Pelcastre et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Segmentation and tracking of cytoskeletal filaments using open active contours

(2010) Matthew B. Smith et al.   Cytoskeleton

Retinoic acid signaling in perioptic mesenchyme represses Wnt signaling via induction of Pitx2 and Dkk2

(2010) Sandeep Kumar et al.   DEVELOPMENTAL BIOLOGY

AP-2α knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis

(2010) Erin A. Bassett et al.   HUMAN MOLECULAR GENETICS

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

(2010) Konstantinos Nikopoulos et al.   HUMAN MUTATION

E2-2 Protein and Fuchs's Corneal Dystrophy

(2010) Keith H. Baratz et al.   NEW ENGLAND JOURNAL OF MEDICINE

A complexTFAP2Aallele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

(2009) Mustafa Tekin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FGF-regulated BMP signaling is required for eyelid closure and to specify conjunctival epithelial cell fate

(2009) J. Huang et al.   DEVELOPMENT

Signaling “cross-talk” is integrated by transcription factors in the development of the anterior segment in the eye

(2009) Philip J. Gage et al.   DEVELOPMENTAL DYNAMICS

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

(2009) Gaia Gestri et al.   HUMAN GENETICS

Post-translational Modification of Thrombospondin Type-1 Repeats in ADAMTS-like 1/Punctin-1 byC-Mannosylation of Tryptophan

(2009) Lauren W. Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutation analysis ofB3GALTLin Peters Plus syndrome

(2008) Linda M. Reis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cell autonomous roles for AP-2α in lens vesicle separation and maintenance of the lens epithelial cell phenotype

(2008) Giuseppe F. Pontoriero et al.   DEVELOPMENTAL DYNAMICS

Microphthalmia with Linear Skin Defects: A Case Report and Review

(2008) Vishakha M. Sharma et al.   PEDIATRIC DERMATOLOGY